ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
SLC6A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
656 | 934 | |
VHL | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
802 | 1957 | |
ATG7 | - | - |
GRCh38 GRCh37 |
53 | 98 | |
ATP2B2 | - | - |
GRCh38 GRCh37 |
370 | 410 | |
ATP2B2-IT1 | - | - | - | GRCh38 | - | 19 |
ATP2B2-IT2 | - | - | - | GRCh38 | - | 18 |
BRK1 | - | - |
GRCh38 GRCh37 |
25 | 165 | |
FANCD2 | - | - |
GRCh38 GRCh37 |
93 | 1822 | |
FANCD2OS | - | - | - |
GRCh38 GRCh37 |
5 | 571 |
GHRL | - | - |
GRCh38 GRCh37 |
1 | 59 |
There are 71 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051506.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023